Results 71 to 80 of about 25,851 (276)

Beyond the label: Rethinking off‐label drug use in paediatrics. Towards a scientifically grounded and safer future for paediatric pharmacotherapy

British Journal of Clinical Pharmacology, EarlyView.
Abstract Despite regulatory progress being made in the past two decades, off‐label drug use in paediatrics remains pervasive, with prevalence estimated between 3% and 97% of prescriptions across different clinical settings. Off‐label use—defined as prescribing outside the conditions described in the Summary of Product Characteristics (SmPC)—is often ...
Tjitske M. van der Zanden, Miriam G. Mooij, Matthijs de Hoog, Saskia N. de Wildt   +3 more
wiley   +1 more source

The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis

Biomolecules
Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded by Agl, enabling glycogen degradation by catalyzing alpha-1,4-oligosaccharide side chain transfer ...
Kumudesh Mishra, Sahar Sweetat, Saja Baraghithy, Uri Sprecher, Monzer Marisat, Sultan Bastu, Hava Glickstein, Joseph Tam, Hanna Rosenmann, Miguel Weil, Edoardo Malfatti, Or Kakhlon   +11 more
doaj   +1 more source

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

Journal of Inborn Errors of Metabolism and Screening, 2015
In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil.
Cristiano Guimarães Kozuki, Carlos Eduardo Steiner MD, PhD   +1 more
doaj   +1 more source

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study

, 2015
Angiotensin converting enzyme (ACE)-inhibitors decrease glomerular hyperfiltration but not microalbuminuria and proteinuria in glycogen storage disease type I.
MELIS, DANIELA, Paci, Sabrina, COZZOLINO, MARIAROSARIA, Dionisi Vici, Carlo, PARENTI, GIANCARLO, Burlina, Alberto, BALIVO, FRANCESCA, Rigoldi, Miriam, Minopoli, Giorgia, Parini, Rossella, ANDRIA, GENEROSO   +10 more
core   +1 more source

Neuronal differentiation and tissue engineering strategies for central neurous system injury repair

BMEMat, EarlyView.
This review outlines tissue engineering advances for central nervous system (CNS) injury treatment, focusing on three core components: seed cells, inductive factors, and scaffold materials, with evaluation of their respective strengths and limitations. Tissue engineering for CNS injury repair.
Zhuqing Xia, Jinghui Zhang, Na Ren, Shuping Wang, Congcong Zhang, Nik Ahmad Nizam Nik Malek, Wan Hairul Anuar Kamaruddin, Chao Liu, Chunhui Sun, Jingang Wang   +9 more
wiley   +1 more source

Targeting neutrophil extracellular traps in metabolic and immune niche: Nanomaterials for diabetes tissue regeneration

BMEMat, EarlyView.
The effects of NETs on regeneration of various diabetic tissues, and strategies targeting NETs for diabetes tissue regeneration. In the diabetic environment, NETs undergo complex metabolic and immune reprogramming, leading to dynamic changes in antibacterial and proinflammatory functions, and affecting regeneration of multiple systemic tissues.
Xinyi Jiang, Muxin Yue, Kai Mao, Boon Chin Heng, Noor Azlin Yahya, Yunsong Liu, Zheng Li   +6 more
wiley   +1 more source

Hypercalcemia in glycogen storage disease type I patients of Turkish origin

The Turkish Journal of Pediatrics, 2012
Glycogen storage disease type I (GSD I) is an autosomal recessive disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-a (G6Pase) catalytic unit characterizes GSD IA and defects in the ...
Ciğdem Seher Kasapkara, Leyla Tümer, Ilyas Okur, Tuba Eminoğlu, Fatih Süheyl Ezgü, Alev Hasanoğlu   +5 more
doaj  

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, EarlyView.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source

Glucose-6-phosphatase deficiency

Orphanet Journal of Rare Diseases, 2011
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting
Labrune Philippe, Gajdos Vincent, Eberschweiler Pascale, Hubert-Buron Aurélie, Petit François, Vianey-Saban Christine, Boudjemline Alix, Piraud Monique, Froissart Roseline   +8 more
doaj   +1 more source

Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells

, 2023
International audienceIntroduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE).
Ronzitti, Giuseppe, Rossiaud, Lucille, Gardin, Antoine, Cosette, Jérémie, Hoch, Lucile, Pellier, Emilie, Barbon, Elena, Giraud-Triboult, Karine, Fragner, Pascal, Benabides, Manon, Nissan, Xavier, El Kassar, Lina   +11 more
core   +1 more source